Varaico: Literature-Extracted Genetic Variants

GNPTAB

347 papers

RefSeq Summary

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. T...

Pfam Domains

Stealth_CR1aa 73–101UCSCStealth protein CR1, conserved region 1

GlcNAc-1_regaa 218–305UCSCPutative GlcNAc-1 phosphotransferase regulatory domain

Stealth_CR2aa 322–429UCSCStealth protein CR2, conserved region 2

Notchaa 435–469UCSCLNR domain

Notchaa 502–536UCSCLNR domain

Ig_GNPTABaa 541–635UCSCGNPTAB, immunoglobulin-like domain

Gene Aliases

HGNC Name

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

HGNC Previous Symbol

GNPTA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024312.5

p.S1180F

c.3539C>T

Surrounding Variants

1 paper

NM_024312.5

p.I1178delFs

c.3532delT

1 paper

NM_024312.5

p.I1178fs

c.3532_3533fs

2 papers

NM_024312.5

p.M1175_P1177delFs

c.3523_3529del7

1 paper

NM_024312.5

p.M1175I

c.3525G>T

1 paper

NM_024312.5

p.M1175I

c.3525G>C

1 paper

NM_024312.5

p.M1175I

c.3525G>A

1 paper

NM_024312.5

p.M1175fs

c.3523_3524fs

1 paper

NM_024312.5

p.E1187fs

c.3559_3560fs

1 paper

NM_024312.5

p.Y1172Y

c.3516T>C

1 paper

NM_024312.5

p.E1187delFs

c.3560_3561delCT

1 paper

NM_024312.5

p.Y1172C

c.3515A>G

1 paper

NM_024312.5

p.Y1188*

c.3564T>G